{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T05:02:18Z","timestamp":1788498138539,"version":"build-2803163510"},"reference-count":109,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DC005575"],"award-info":[{"award-number":["R01DC005575"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DC012115"],"award-info":[{"award-number":["R01DC012115"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DC107624"],"award-info":[{"award-number":["R01DC107624"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 DC015995"],"award-info":[{"award-number":["T32 DC015995"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2020,7]]},"DOI":"10.1016\/j.gene.2020.144677","type":"journal-article","created":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T15:12:00Z","timestamp":1586963520000},"page":"144677","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Diagnostic and therapeutic applications of genomic medicine in progressive, late-onset, nonsyndromic sensorineural hearing loss"],"prefix":"10.1016","volume":"747","author":[{"given":"Joaquin E.","family":"Jimenez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Nourbakhsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett","family":"Colbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Mittal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos L.","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Nisenbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Bencie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Rudman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan H.","family":"Blanton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhong Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2020.144677_b0005","doi-asserted-by":"crossref","first-page":"2735","DOI":"10.1007\/s00018-017-2493-1","article-title":"Epigenetics: a link between addiction and social environment","volume":"74","author":"Ajonijebu","year":"2017","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.gene.2020.144677_b0010","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.neuron.2012.05.019","article-title":"Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy","volume":"75","author":"Akil","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.gene.2020.144677_b0015","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1002\/ar.22579","article-title":"Genetics of hearing and deafness","volume":"295","author":"Angeli","year":"2012","journal-title":"Anatomical Rec."},{"key":"10.1016\/j.gene.2020.144677_b0020","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/j.jcomdis.2008.03.001","article-title":"Ethical and social implications of genetic testing for communication disorders","volume":"41","author":"Arnos","year":"2008","journal-title":"J. Commun. Disord."},{"key":"10.1016\/j.gene.2020.144677_b0025","doi-asserted-by":"crossref","unstructured":"Askew, C., Rochat, C., Pan, B., Asai, Y., Ahmed, H., Child, E., Schneider, B.L., Aebischer, P., Holt, J.R., 2015. Tmc gene therapy restores auditory function in deaf mice. Sci. Trans. Med. 7, 295ra108-295ra108.","DOI":"10.1126\/scitranslmed.aab1996"},{"key":"10.1016\/j.gene.2020.144677_b0030","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0102077","article-title":"Hair cell regeneration after ATOH1 gene therapy in the cochlea of profoundly deaf adult guinea pigs","volume":"9","author":"Atkinson","year":"2014","journal-title":"PLoS ONE"},{"key":"10.1016\/j.gene.2020.144677_b0035","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1089\/gtmb.2014.0121","article-title":"Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss","volume":"18","author":"Bademci","year":"2014","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"10.1016\/j.gene.2020.144677_b0040","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1038\/gim.2015.89","article-title":"Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort","volume":"18","author":"Bademci","year":"2016","journal-title":"Genet. Med."},{"key":"10.1016\/j.gene.2020.144677_b0045","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/AUD.0000000000000088","article-title":"Gene therapy for sensorineural hearing loss","volume":"36","author":"Chien","year":"2015","journal-title":"Ear Hear."},{"key":"10.1016\/j.gene.2020.144677_b0050","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1093\/geronb\/gbw005","article-title":"Association of hearing impairment and emotional vitality in older adults","volume":"71","author":"Contrera","year":"2016","journal-title":"J. Gerontol. B Psychol. Sci. Soc. Sci."},{"key":"10.1016\/j.gene.2020.144677_b0055","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1007\/s10162-017-0628-6","article-title":"Rhesus cochlear and vestibular functions are preserved after inner ear injection of saline volume sufficient for gene therapy delivery","volume":"18","author":"Dai","year":"2017","journal-title":"J. Assoc. Res. Otolaryngol."},{"key":"10.1016\/j.gene.2020.144677_b0060","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1080\/15227950290097606","article-title":"Liposome-mediated delivery of oligodeoxynucleotides in vivo","volume":"9","author":"Dass","year":"2002","journal-title":"Drug Delivery"},{"key":"10.1016\/j.gene.2020.144677_b0065","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.heares.2015.08.003","article-title":"Analysis of plasma microRNA expression profiles in male textile workers with noise-induced hearing loss","volume":"333","author":"Ding","year":"2016","journal-title":"Hear. Res."},{"key":"10.1016\/j.gene.2020.144677_b0070","doi-asserted-by":"crossref","first-page":"601","DOI":"10.3109\/00016489.2014.880795","article-title":"Genes involved in immunity and apoptosis are associated with human presbycusis based on microarray analysis","volume":"134","author":"Dong","year":"2014","journal-title":"Acta Otolaryngol."},{"key":"10.1016\/j.gene.2020.144677_b0075","doi-asserted-by":"crossref","first-page":"1996","DOI":"10.1056\/NEJMc1509501","article-title":"Visual acuity after retinal gene therapy for choroideremia","volume":"374","author":"Edwards","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2020.144677_b0080","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1002\/ar.22580","article-title":"The cochlear implant: historical aspects and future prospects","volume":"295","author":"Eshraghi","year":"2012","journal-title":"Anatomical Rec.: Adv. Integrative Anatomy Evolutionary Biol."},{"key":"10.1016\/j.gene.2020.144677_b0085","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.gene.2013.10.052","article-title":"A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss","volume":"534","author":"Faletra","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.gene.2020.144677_b0090","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1373\/clinchem.2004.037788","article-title":"Paraoxonase and superoxide dismutase gene polymorphisms and noise-induced hearing loss","volume":"50","author":"Fortunato","year":"2004","journal-title":"Clin. Chem."},{"key":"10.1016\/j.gene.2020.144677_b0095","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1007\/s00335-009-9230-5","article-title":"MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness","volume":"20","author":"Friedman","year":"2009","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.gene.2020.144677_b0100","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.ajhg.2012.08.005","article-title":"Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth","volume":"91","author":"Fromer","year":"2012","journal-title":"Am. J. Human Genetics"},{"key":"10.1016\/j.gene.2020.144677_b0105","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/srep00838","article-title":"BDNF gene therapy induces auditory nerve survival and fiber sprouting in deaf Pou4f3 mutant mice","volume":"2","author":"Fukui","year":"2012","journal-title":"Sci. Rep."},{"key":"10.1016\/j.gene.2020.144677_b0110","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/nature25164","article-title":"Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents","volume":"553","author":"Gao","year":"2018","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144677_b0115","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1097\/WNN.0b013e3181d748d7","article-title":"Executive dysfunction and presbycusis in older persons with and without memory loss and dementia","volume":"23","author":"Gates","year":"2010","journal-title":"Cognitive Behavioral Neurol.: Off. J. Soc. Behavioral Cognitive Neurol."},{"key":"10.1016\/j.gene.2020.144677_b0120","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/nature13394","article-title":"Genome sequencing identifies major causes of severe intellectual disability","volume":"511","author":"Gilissen","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144677_b0125","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0130827","article-title":"Genetic polymorphisms associated with hearing threshold shift in subjects during first encounter with occupational impulse noise","volume":"10","author":"Grondin","year":"2015","journal-title":"PLoS ONE"},{"key":"10.1016\/j.gene.2020.144677_b0130","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1111\/cge.12431","article-title":"Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations","volume":"87","author":"Gu","year":"2015","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0135","doi-asserted-by":"crossref","unstructured":"Gurgel, R.K., Ward, P.D., Schwartz, S., Norton, M.C., Foster, N.L., Tschanz, J.T., 2014. Relationship of hearing loss and dementia: a prospective, population-based study. Otol. Neurotol.: Off. Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 35, 775.","DOI":"10.1097\/MAO.0000000000000313"},{"key":"10.1016\/j.gene.2020.144677_b0140","doi-asserted-by":"crossref","unstructured":"Gurumurthy, C.B., Grati, M.h., Ohtsuka, M., Schilit, S.L., Quadros, R.M., Liu, X.Z., 2016. CRISPR: a versatile tool for both forward and reverse genetics research. Human genetics 135, 971\u2013976.","DOI":"10.1007\/s00439-016-1704-4"},{"key":"10.1016\/j.gene.2020.144677_b0145","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006371","article-title":"A large genome-wide association study of age-related hearing impairment using electronic health records","volume":"12","author":"Hoffmann","year":"2016","journal-title":"PLoS Genet."},{"key":"10.1016\/j.gene.2020.144677_b0150","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1002\/lary.26150","article-title":"Prevalence of age-related hearing loss, including sex differences, in older adults in a large cohort study","volume":"127","author":"Homans","year":"2017","journal-title":"The Laryngoscope"},{"key":"10.1016\/j.gene.2020.144677_b0155","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1001\/jamaoto.2017.1243","article-title":"The economic impact of adult hearing loss: a systematic review","volume":"143","author":"Huddle","year":"2017","journal-title":"JAMA Otolaryngol.\u2013Head Neck Surgery"},{"key":"10.1016\/j.gene.2020.144677_b0160","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nm1193","article-title":"Auditory hair cell replacement and hearing improvement by Atoh1 gene therapy in deaf mammals","volume":"11","author":"Izumikawa","year":"2005","journal-title":"Nat. Med."},{"key":"10.1016\/j.gene.2020.144677_b0165","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/bs.mie.2016.10.021","article-title":"Recent achievements in characterizing the histone code and approaches to integrating epigenomics and systems biology","author":"Janssen","year":"2017","journal-title":"Meth. Enzymol. Elsevier"},{"key":"10.1016\/j.gene.2020.144677_b0170","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1097\/00001756-200210280-00030","article-title":"ATP-gated ion channels assembled from P2X2 receptor subunits in the mouse cochlea","volume":"13","author":"J\u00e4rlebark","year":"2002","journal-title":"NeuroReport"},{"key":"10.1016\/j.gene.2020.144677_b0175","doi-asserted-by":"crossref","first-page":"3962","DOI":"10.1523\/JNEUROSCI.3111-15.2016","article-title":"Adenosine A1 receptor protects against cisplatin ototoxicity by suppressing the NOX3\/STAT1 inflammatory pathway in the cochlea","volume":"36","author":"Kaur","year":"2016","journal-title":"J. Neurosci."},{"key":"10.1016\/j.gene.2020.144677_b0180","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1097\/MLG.0b013e318164d0aa","article-title":"Gene transfer in human vestibular epithelia and the prospects for inner ear gene therapy","volume":"118","author":"Kesser","year":"2008","journal-title":"The Laryngoscope"},{"key":"10.1016\/j.gene.2020.144677_b0185","article-title":"Discovery of CDH23 as a significant contributor to progressive postlingual sensorineural hearing loss in Koreans","volume":"11","author":"Kim","year":"2016","journal-title":"PLoS ONE"},{"key":"10.1016\/j.gene.2020.144677_b0190","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1038\/nature16526","article-title":"High-fidelity CRISPR\u2013Cas9 nucleases with no detectable genome-wide off-target effects","volume":"529","author":"Kleinstiver","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144677_b0195","unstructured":"Klickstein, L., 2013. CGF166 atonal gene therapy for hearing loss & vestibular dysfunction: review of NIH OBA protocol# 1310\u20131260. Accessed April 1, 2015."},{"key":"10.1016\/j.gene.2020.144677_b0200","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1093\/hmg\/ddm135","article-title":"Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations","volume":"16","author":"Konings","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0205","doi-asserted-by":"crossref","unstructured":"Kurniawan, C., Westendorp, R.G., de Craen, A.J., Gussekloo, J., de Laat, J., van Exel, E., 2012. Gene dose of apolipoprotein E and age-related hearing loss. Neurobiology of aging 33, 2230. e7-2230. e12.","DOI":"10.1016\/j.neurobiolaging.2012.04.001"},{"key":"10.1016\/j.gene.2020.144677_b0210","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/nbt.3781","article-title":"A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear","volume":"35","author":"Landegger","year":"2017","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.gene.2020.144677_b0215","first-page":"70","article-title":"Effect of SOD2 methylation on mitochondrial DNA4834-bp deletion mutation in marginal cells under oxidative stress","volume":"20","author":"Li","year":"2020","journal-title":"Bosnian J. Basic Med. Sci."},{"key":"10.1016\/j.gene.2020.144677_b0220","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1177\/000348949410300602","article-title":"Nonsyndromic hearing loss: an analysis of audiograms","volume":"103","author":"Liu","year":"1994","journal-title":"Ann. Otol., Rhinol. Laryngol."},{"key":"10.1016\/j.gene.2020.144677_b0225","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1080\/00016480701719011","article-title":"Audiological and genetic features of the mt DNA mutations","volume":"128","author":"Liu","year":"2008","journal-title":"Acta Otolaryngol."},{"key":"10.1016\/j.gene.2020.144677_b0230","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/path.2102","article-title":"Ageing and hearing loss","volume":"211","author":"Liu","year":"2007","journal-title":"J. Pathol.: J. Pathol. Soc. Great Britain Ireland"},{"key":"10.1016\/j.gene.2020.144677_b0235","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1007\/s00405-015-3711-9","article-title":"The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population","volume":"273","author":"Luo","year":"2016","journal-title":"Eur. Arch. Otorhinolaryngol."},{"key":"10.1016\/j.gene.2020.144677_b0240","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1016\/S0140-6736(13)62117-0","article-title":"Retinal gene therapy in patients with choroideremia: initial findings from a phase 1\/2 clinical trial","volume":"383","author":"MacLaren","year":"2014","journal-title":"The Lancet"},{"key":"10.1016\/j.gene.2020.144677_b0245","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1093\/hmg\/ddi172","article-title":"In vitro and in vivo suppression of GJB2 expression by RNA interference","volume":"14","author":"Maeda","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0250","first-page":"13","article-title":"Therapeutic regulation of gene expression in the inner ear using RNA interference, Gene Therapy of Cochlear Deafness","author":"Maeda","year":"2009","journal-title":"Karger Publishers"},{"key":"10.1016\/j.gene.2020.144677_b0255","doi-asserted-by":"crossref","first-page":"2240","DOI":"10.1056\/NEJMoa0802315","article-title":"Safety and efficacy of gene transfer for Leber's congenital amaurosis","volume":"358","author":"Maguire","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2020.144677_b0260","doi-asserted-by":"crossref","unstructured":"McCarthy, J.J., McLeod, H.L. Ginsburg, G.S., 2013. Genomic medicine: a decade of successes, challenges, and opportunities. Sci. Trans. Med. 5, 189sr4-189sr4.","DOI":"10.1126\/scitranslmed.3005785"},{"key":"10.1016\/j.gene.2020.144677_b0265","doi-asserted-by":"crossref","unstructured":"McDermott, J.H., Molina-Ram\u00edrez, L.P., Bruce, I.A., Mahaveer, A., Turner, M., Miele, G., Body, R., Mahood, R., Ulph, F., MacLeod, R., 2019. Diagnosing and preventing hearing loss in the genomic age. Trends Hearing 23, 2331216519878983.","DOI":"10.1177\/2331216519878983"},{"key":"10.1016\/j.gene.2020.144677_b0270","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1038\/ng.355","article-title":"Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss","volume":"41","author":"Mencia","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0275","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13073-016-0273-4","article-title":"Correction of the auditory phenotype in C57BL\/6N mice via CRISPR\/Cas9-mediated homology directed repair","volume":"8","author":"Miann\u00e9","year":"2016","journal-title":"Genome Med."},{"key":"10.1016\/j.gene.2020.144677_b0280","doi-asserted-by":"crossref","first-page":"236","DOI":"10.3389\/fnmol.2017.00236","article-title":"Recent advancements in the regeneration of auditory hair cells and hearing restoration","volume":"10","author":"Mittal","year":"2017","journal-title":"Front. Mol. Neurosci."},{"key":"10.1016\/j.gene.2020.144677_b0285","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.gene.2018.10.075","article-title":"Role of microRNAs in inner ear development and hearing loss","volume":"686","author":"Mittal","year":"2019","journal-title":"Gene"},{"key":"10.1016\/j.gene.2020.144677_b0290","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.neuron.2012.10.032","article-title":"Notch inhibition induces cochlear hair cell regeneration and recovery of hearing after acoustic trauma","volume":"77","author":"Mizutari","year":"2013","journal-title":"Neuron"},{"key":"10.1016\/j.gene.2020.144677_b0295","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1017\/thg.2015.35","article-title":"Genetic and environmental factors in age-related hearing impairment","volume":"18","author":"Momi","year":"2015","journal-title":"Twin Res. Human Genetics"},{"key":"10.1016\/j.gene.2020.144677_b0300","doi-asserted-by":"crossref","first-page":"177S","DOI":"10.1177\/0003489415575045","article-title":"Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation","volume":"124","author":"Moteki","year":"2015","journal-title":"Ann. Otol., Rhinol. Laryngol."},{"key":"10.1016\/j.gene.2020.144677_b0305","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1089\/ars.2010.3110","article-title":"Transtympanic administration of short interfering (si) RNA for the NOX3 isoform of NADPH oxidase protects against cisplatin-induced hearing loss in the rat","volume":"13","author":"Mukherjea","year":"2010","journal-title":"Antioxid. Redox Signal."},{"key":"10.1016\/j.gene.2020.144677_b0310","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0124301","article-title":"Attenuation of progressive hearing loss in DBA\/2J mice by reagents that affect epigenetic modifications is associated with up-regulation of the zinc importer Zip4","volume":"10","author":"Mutai","year":"2015","journal-title":"PLoS ONE"},{"key":"10.1016\/j.gene.2020.144677_b0315","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/nbt.3801","article-title":"Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c","volume":"35","author":"Pan","year":"2017","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.gene.2020.144677_b0320","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1111\/j.1469-1809.2009.00521.x","article-title":"Analysis of gene polymorphisms associated with K+ ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss","volume":"73","author":"Pawelczyk","year":"2009","journal-title":"Ann. Hum. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0325","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1034\/j.1399-0004.2002.620101.x","article-title":"Non-syndromic autosomal-dominant deafness","volume":"62","author":"Petersen","year":"2002","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0330","doi-asserted-by":"crossref","unstructured":"Pinyon, J.L., Tadros, S.F., Froud, K.E., Wong, A.C., Tompson, I.T., Crawford, E.N., Ko, M., Morris, R., Klugmann, M., Housley, G.D., 2014. Close-field electroporation gene delivery using the cochlear implant electrode array enhances the bionic ear. Sci. Trans. Med. 6, 233ra54-233ra54.","DOI":"10.1126\/scitranslmed.3008177"},{"key":"10.1016\/j.gene.2020.144677_b0335","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.heares.2008.11.009","article-title":"Adenoviral vectors for improved gene delivery to the inner ear","volume":"248","author":"Praetorius","year":"2009","journal-title":"Hear. Res."},{"key":"10.1016\/j.gene.2020.144677_b0340","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/S0378-5955(02)00350-7","article-title":"Antioxidant status and hearing function in noise-exposed workers","volume":"173","author":"Rabinowitz","year":"2002","journal-title":"Hear. Res."},{"key":"10.1016\/j.gene.2020.144677_b0345","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1517\/14712598.2015.1009889","article-title":"Atoh1 gene therapy in the cochlea for hair cell regeneration","volume":"15","author":"Richardson","year":"2015","journal-title":"Expert Opin. Biol. Ther."},{"key":"10.1016\/j.gene.2020.144677_b0350","doi-asserted-by":"crossref","first-page":"2429","DOI":"10.1007\/s00018-012-1016-3","article-title":"siRNA-mediated knock-down of NOX3: therapy for hearing loss?","volume":"69","author":"Rybak","year":"2012","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.gene.2020.144677_b0355","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/gt.2012.51","article-title":"Gene transfer in inner ear cells: a challenging race","volume":"20","author":"Sacheli","year":"2013","journal-title":"Gene Ther."},{"key":"10.1016\/j.gene.2020.144677_b0360","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1002\/ajmg.a.31668","article-title":"Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment","volume":"143","author":"Samanich","year":"2007","journal-title":"Am. J. Med. Genetics Part A"},{"key":"10.1016\/j.gene.2020.144677_b0365","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1177\/0194599815591156","article-title":"Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care","volume":"153","author":"Shearer","year":"2015","journal-title":"Otolaryngol.-Head Neck Surgery"},{"key":"10.1016\/j.gene.2020.144677_b0370","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/gm554","article-title":"Copy number variants are a common cause of non-syndromic hearing loss","volume":"6","author":"Shearer","year":"2014","journal-title":"Genome Med."},{"key":"10.1016\/j.gene.2020.144677_b0375","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1136\/jmedgenet-2013-101749","article-title":"Advancing genetic testing for deafness with genomic technology","volume":"50","author":"Shearer","year":"2013","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0380","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/j.ajhg.2016.03.028","article-title":"RNA interference prevents autosomal-dominant hearing loss","volume":"98","author":"Shibata","year":"2016","journal-title":"Am. J. Human Genetics"},{"key":"10.1016\/j.gene.2020.144677_b0385","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1089\/hum.2016.053","article-title":"Identification of adeno-associated viral vectors that target neonatal and adult mammalian inner ear cell subtypes","volume":"27","author":"Shu","year":"2016","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.gene.2020.144677_b0390","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1007\/s00439-019-02037-1","article-title":"A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss","volume":"138","author":"Sineni","year":"2019","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0395","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1126\/science.aad5227","article-title":"Rationally engineered Cas9 nucleases with improved specificity","volume":"351","author":"Slaymaker","year":"2016","journal-title":"Science"},{"key":"10.1016\/j.gene.2020.144677_b0400","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.mrrev.2012.11.001","article-title":"Contribution of genetic factors to noise-induced hearing loss: a human studies review","volume":"752","author":"Sliwinska-Kowalska","year":"2013","journal-title":"Mutation Res.\/Rev. Mutation Res."},{"key":"10.1016\/j.gene.2020.144677_b0405","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s00439-016-1648-8","article-title":"Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss","volume":"135","author":"Sloan-Heggen","year":"2016","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0410","doi-asserted-by":"crossref","unstructured":"Sly, D.J., Campbell, L., Uschakov, A., Saief, S.T., Lam, M., O\u2019leary, S.J., 2016. Applying neurotrophins to the round window rescues auditory function and reduces inner hair cell synaptopathy after noise-induced hearing loss. Otol. Neurotol. 37, 1223\u20131230.","DOI":"10.1097\/MAO.0000000000001191"},{"key":"10.1016\/j.gene.2020.144677_b0415","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.heares.2011.01.006","article-title":"Development of gene therapy for inner ear disease: using bilateral vestibular hypofunction as a vehicle for translational research","volume":"276","author":"Staecker","year":"2011","journal-title":"Hear. Res."},{"key":"10.1016\/j.gene.2020.144677_b0420","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1007\/s00405-017-4471-5","article-title":"Age-related hearing loss and dementia: a 10-year national population-based study","volume":"274","author":"Su","year":"2017","journal-title":"Eur. Arch. Otorhinolaryngol."},{"key":"10.1016\/j.gene.2020.144677_b0425","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.heares.2016.01.018","article-title":"A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes","volume":"333","author":"Tekin","year":"2016","journal-title":"Hear. Res."},{"key":"10.1016\/j.gene.2020.144677_b0430","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s11302-010-9195-6","article-title":"Reduced P2x 2 receptor-mediated regulation of endocochlear potential in the ageing mouse cochlea","volume":"6","author":"Telang","year":"2010","journal-title":"Purinergic Signalling"},{"key":"10.1016\/j.gene.2020.144677_b0435","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/j.ophtha.2012.11.048","article-title":"Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2","volume":"120","author":"Testa","year":"2013","journal-title":"Ophthalmology"},{"key":"10.1016\/j.gene.2020.144677_b0440","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1007\/s10162-003-4003-4","article-title":"Purinergic modulation of cochlear partition resistance and its effect on the endocochlear potential in the Guinea pig","volume":"5","author":"Thorne","year":"2004","journal-title":"J. Assoc. Res. Otolaryngol."},{"key":"10.1016\/j.gene.2020.144677_b0445","doi-asserted-by":"crossref","first-page":"2238","DOI":"10.1097\/01.mlg.0000183694.10583.12","article-title":"N-acetyltransferase 2 gene polymorphism and presbycusis","volume":"115","author":"\u00dcnal","year":"2005","journal-title":"The Laryngoscope"},{"key":"10.1016\/j.gene.2020.144677_b0450","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1159\/000106478","article-title":"The complexity of age-related hearing impairment: contributing environmental and genetic factors","volume":"12","author":"Van Eyken","year":"2007","journal-title":"Audiol. Neurotol."},{"key":"10.1016\/j.gene.2020.144677_b0455","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1002\/humu.20360","article-title":"The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss","volume":"27","author":"Van Laer","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2020.144677_b0460","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1016\/j.ijporl.2010.06.010","article-title":"Cochlear implantation in common forms of genetic deafness","volume":"74","author":"Vivero","year":"2010","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.gene.2020.144677_b0465","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1038\/s41431-018-0126-2","article-title":"Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection","volume":"26","author":"Vuckovic","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0470","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1097\/00001756-200305060-00008","article-title":"Noise induces up-regulation of P2X2 receptor subunit of ATP-gated ion channels in the rat cochlea","volume":"14","author":"Wang","year":"2003","journal-title":"NeuroReport"},{"key":"10.1016\/j.gene.2020.144677_b0475","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1001\/jamaoto.2016.2661","article-title":"Increases in the rate of age-related hearing loss in the older old","volume":"143","author":"Wattamwar","year":"2017","journal-title":"JAMA Otolaryngol.-Head Neck Surgery"},{"key":"10.1016\/j.gene.2020.144677_b0480","doi-asserted-by":"crossref","unstructured":"Wise, A.K., Hume, C.R., Flynn, B.O., Jeelall, Y.S., Suhr, C.L., Sgro, B.E., O'leary, S.J., Shepherd, R.K., Richardson, R.T., 2010. Effects of localized neurotrophin gene expression on spiral ganglion neuron resprouting in the deafened cochlea. Molecular Therapy 18, 1111\u20131122.","DOI":"10.1038\/mt.2010.28"},{"key":"10.1016\/j.gene.2020.144677_b0485","doi-asserted-by":"crossref","first-page":"6407","DOI":"10.1093\/hmg\/ddu346","article-title":"Salt-inducible kinase 3, SIK3, is a new gene associated with hearing","volume":"23","author":"Wolber","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0490","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/ng.3217","article-title":"Common variants in ACYP2 influence susceptibility to cisplatin-induced hearing loss","volume":"47","author":"Xu","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2020.144677_b0495","doi-asserted-by":"crossref","first-page":"4972","DOI":"10.2741\/3056","article-title":"Cochlear molecules and hereditary deafness","volume":"13","author":"Yan","year":"2008","journal-title":"Frontiers Biosci."},{"key":"10.1016\/j.gene.2020.144677_b0500","doi-asserted-by":"crossref","first-page":"2228","DOI":"10.1073\/pnas.1222285110","article-title":"Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise","volume":"110","author":"Yan","year":"2013","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.gene.2020.144677_b0505","article-title":"Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach","volume":"12","author":"Yan","year":"2017","journal-title":"PLoS ONE"},{"key":"10.1016\/j.gene.2020.144677_b0510","article-title":"Regeneration of stereocilia of hair cells by forced Atoh1 expression in the adult mammalian cochlea","volume":"7","author":"Yang","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.gene.2020.144677_b0515","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/j.ymthe.2018.12.014","article-title":"Targeted allele suppression prevents progressive hearing loss in the mature murine model of human TMC1 deafness","volume":"27","author":"Yoshimura","year":"2019","journal-title":"Mol. Ther."},{"key":"10.1016\/j.gene.2020.144677_b0520","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/gt.2013.59","article-title":"Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice","volume":"21","author":"Yu","year":"2014","journal-title":"Gene Ther."},{"key":"10.1016\/j.gene.2020.144677_b0525","article-title":"Identifying microRNAs involved in degeneration of the organ of corti during age-related hearing loss","volume":"8","author":"Zhang","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.gene.2020.144677_b0530","article-title":"Cmah deficiency may lead to age-related hearing loss by influencing miRNA-PPAR mediated signaling pathway","volume":"7","author":"Zhang","year":"2019","journal-title":"PeerJ"},{"key":"10.1016\/j.gene.2020.144677_b0535","doi-asserted-by":"crossref","unstructured":"Zhao, Y., Wang, F., Chen, S., Wan, J., Wang, G., 2017. Methods of microRNA promoter prediction and transcription factor mediated regulatory network. BioMed Res. Int.","DOI":"10.1155\/2017\/7049406"},{"key":"10.1016\/j.gene.2020.144677_b0540","doi-asserted-by":"crossref","unstructured":"B. Zou R. Mittal Grati, M.h., Lu, Z., Shu, Y., Tao, Y., Feng, Y., Xie, D., Kong, W. and Yang, S., The application of genome editing in studying hearing loss Hearing research 327 2015 102 108.","DOI":"10.1016\/j.heares.2015.04.016"},{"key":"10.1016\/j.gene.2020.144677_b0545","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/nbt.3081","article-title":"Cationic lipid-mediated delivery of proteins enables efficient protein-based genome editing in vitro and in vivo","volume":"33","author":"Zuris","year":"2015","journal-title":"Nat. Biotechnol."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111920303462?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111920303462?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T16:06:03Z","timestamp":1726848363000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111920303462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":109,"alternative-id":["S0378111920303462"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2020.144677","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2020,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic and therapeutic applications of genomic medicine in progressive, late-onset, nonsyndromic sensorineural hearing loss","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2020.144677","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"144677"}}